An Adelaide family have played an important role in the discovery of a previously undiscovered bone marrow disease called ERG Deficiency Syndrome, helping scientists develop a new clinical diagnostic test.
This past week, Centre for Cancer Biology (CCB) researchers at SA Pathology and the University of South Australia discovered the disease while examining the family of Kristijan Ramsea and their history with a complicated set of blood disorders.
Kristijan’s mother dealt with a number of blood disorders in early adulthood and was later diagnosed with acute myeloid leukaemia. A pattern of similar disorders would later be recognised in her children, leading genetic scientists to investigate.
After the initial discovery, genetic testing was performed on each affected family member to rule out all known genes associated with bone marrow failure and blood cancer. Then, the family was recruited to the Australian Familial Haematological Conditions Study (AFHCS) in Adelaide to have their genome re-examined. This is when researchers came to a surprising realisation, identifying a suspicious mutation in the ERG gene not previously known to cause symptoms linked to familial bone marrow failures and blood cancers.
The mutation was revealed when researchers analysed hair samples from the family. It was hidden by a mechanism called somatic gene rescue, which masked the variant in each of the family members’ blood samples.
Researchers then added the mutation into an international matchmaking database and identified a long list of patients from around the world with ERG mutations associated with bone marrow failure and blood cancer.
As a result, ERG has now been added to routine testing as a clinical screening test for bone marrow failure and blood cancer at SA Pathology and is being implemented worldwide.
SA Pathology have now added ERG to routine testing and screening tests for bone marrow failure and blood cancer, a step that will soon be implemented worldwide thanks to this Adelaide family and South Australian researchers.
Associate Professor Chris Hahn, researcher and Section Head of the Molecular Pathology Research Laboratory, commented on the discovery:
“Thanks to this one Adelaide family, we have uncovered a new pathway in understanding blood conditions, enabling doctors to better monitor and counsel individuals at risk, which will help to improve blood cancer outcomes by early detection and optimal therapy.”
This discovery has also opened opportunities for predictive testing in the future, offering reproductive choices to families at risk and other forms of early detection. Professor Hamish Scott, Lead Researcher and SA Pathology Head of Genetics and Molecular Pathology, had this to say:
“By being able to identify this mutated gene, we can diagnose patients and predict the likelihood of bone marrow failure and blood cancer occurring in the future, which will undoubtedly help countless families across the world.”
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